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21.
Rivera-Brugues, N. et al.: Cohen syndrome diagnosis using whole genome arrays. J. Med. Genet. 48, 136-140 (2011)
22.
Schormair, B. et al.: MEIS1 and BTBD9: Genetic association with restless leg syndrome in end stage renal disease. J. Med. Genet. 48, 462-466 (2011)
23.
Kemlink, D. et al.: Replication of restless legs syndrome loci in three European populations. J. Med. Genet. 46, 315-318 (2009)
24.
Koolen, D.A.* et al.: Clinical and molecular delineation of the 17q21.31 microdeletion syndrome. J. Med. Genet. 45, 710-720 (2008)
25.
Sharma, M.* et al.: The Sepiapterin reductase gene region reveals association in the PARK3 locus: Analysis of familial and sporadic Parkinson disease in European populations. J. Med. Genet. 43, 557-562 (2006)
26.
Vollmert, C. et al.: Significant association of a M129V independent polymorphism in the 5'UTR of the PRNP gene with sporadic Creutzfeldt-Jakob disease in a large German case-control study. J. Med. Genet. 43:e53 (2006)
27.
Heid, I.M. et al.: Association of the 103I MC4R allele with decreased body mass in 7937 participants of two population based surveys. J. Med. Genet. 42, [Umf.21S.] (2005)
28.
Rost, I.* et al.: Tetrasomy 21pter-q21.2 in a male infant without typical Down's syndrome dysmorphic features but moderate mental retardation. J. Med. Genet. 41, 1-7 (2004)
29.
Weidinger, S.* et al.: Association of a STAT 6 haplotype with elevated serum IgE levels in a population based cohort of white adults. J. Med. Genet. 41, 658-663 (2004)
30.
Kraus, J. et al.: A familiy unbalanced subtelomeric translocation resulting in monosomy 6q27-qter. J. Med. Genet. 40, 1-5 (2003)
31.
Kraus, J. ; Cohen, M.* & Speicher, M.R.: Multicolor FISH fine mapping unravels an insertion as a complex chromosomal rearrangement involving six breakpoints and a 5.89 Mb large deletion. J. Med. Genet. 40, 1-4 (2003)
32.
Meins, M.* et al.: Partial trisomy of chromosome 22 resulting from an interstitial duplication of 22q 11.2 in a child with typical cat eye syndrome. J. Med. Genet. 40, 1-4 (2003)
33.
Santhiya, S.T. et al.: Novel mutations in the gamma-crystallin genes cause autosomal dominant congenital cataracts. J. Med. Genet. 39, 352-358 (2002)